Leber congenital amaurosis 12

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.

Also known as LCA12, Leber congenital amaurosis 12, Leber congenital amaurosis caused by mutation in RD3, Leber congenital amaurosis type 12, RD3 Leber congenital amaurosis — per MONDO

Also identified as

• DOID 0110080 per MONDO
• MESH C565697 per MONDO
• OMIM 610612 per MONDO
• UMLS C1857743 per MONDO